A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550963



Internal ID15991686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:54485907..54545055hg38UCSC Ensembl
Innerchr10:56245667..56304815hg19UCSC Ensembl
Innerchr10:55915673..55974821hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3859149
hg1959149
hg1859149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1157n54
Supporting Variantsnssv748256
Samples
Known GenesPCDH15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550963
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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